Macular and Extramacular Optical Coherence Tomography Findings in X-linked Retinoschisis

Abstract

Two brothers with X-linked retinoschisis were evaluated using optical coherence tomography. Macular cleavage was observed at the inner nuclear layer. Retinal nerve fiber layer loss or detachment was observed outside the macular area, even in areas of clinically normal retina. Macular thickening and cavitation with multiple septa was characteristic, decreasing rapidly from the center toward the macular periphery and being more pronounced in the younger patient. No abnormal vitreomacular relationship or traction over the macular and extramacular schisis areas was observed. Optical coherence tomography showed a characteristic pattern of macular schisis in X-linked retinoschisis and confirmed a widespread retinal splitting despite mild clinical findings. Middle and outer neurosensory retina was principally compromised in the macular area and the retinal nerve fiber layer in extramacular areas. No vitreous traction was apparently involved in the foveal and extramacular splitting and elevation.